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http://dx.doi.org/10.1186/s12920-025-02100-z | DOI Listing |
Eur Heart J Case Rep
September 2025
Tallaght University Hospital, Tallaght, Dublin D24 NR0A, Ireland.
Background: Myocarditis typically presents with chest pain, a raised troponin and is associated with late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR). However, non-resolution of symptoms despite treatment should raise cause for concern that an alternative diagnosis may be present.
Case Summary: A 17-year-old gentleman with a background history of developmental delay, gastrointestinal motility issues, retractile testes, and patellar dislocation presented to our emergency department with chest pain.
Eur Heart J
August 2025
Department of Medicine, Queen's University, Biosciences Complex Room 1520, 116 Barrie Street, Kingston, Ontario, Canada K7L 3N6.
Background And Aims: Multiple germline gene variants promote familial and idiopathic pulmonary arterial hypertension (PAH); however, none are consistently identified in associated PAH with connective tissue disease (APAH-CTD). Moreover, the role of somatic variants in genes mediating clonal haematopoiesis of indeterminate potential (CHIP) in PAH is unknown. Here, somatic and germline DNMT3A variants and CHIP gene variants in PAH were evaluated.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Cystoid macular edema (CME) is a common complication in various retinal disorders, often leading to significant central vision impairment. However, the underlying genetic causes and detailed clinical features in patients with fluctuating CME remain unclear. This retrospective, observational case series analyzed two patients from a single family with fluctuating CME, focusing on both clinical and genetic aspects.
View Article and Find Full Text PDFJ Neuromuscul Dis
August 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Background: Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder that progressively affects motor neurons. Gain-of-function mutations in serine palmitoyltransferase (SPT) genes, notably and , have been linked to juvenile ALS. Here, we describe two childhood-onset ALS cases with distinct SPTLC2 mutations, providing new insights into sphingolipid dysregulation and its role in ALS pathogenesis.
View Article and Find Full Text PDFEur Spine J
August 2025
Department of Spinal Surgery, Peking University People's Hospital, Peking University, Beijing, China.
Purpose: This study reports a surgical case for spinal deformity in a patient with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFSIB), a rare autosomal recessive musculoskeletal disorder caused by biallelic mutations in MYH3.
Methods: A female patient with congenital joint contractures was admitted due to severe thoracic scoliosis and lordosis. The patient was diagnosed with CPSFSIB following whole exome sequencing (WES).